Neonatal Onset: Causes & Reasons

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Possible Causes for Neonatal Onset

Citrullinemia Type 1

Two Cases of Neonatal Onset Type II Citrullinemia Diagnosed by Urine Organic Acids Based Newborn Screening. Y. Watanabe 1, 2, K. Tashiro 1, K. Aoki 1, T. Inokuchi 1, Y. [ashg.org]

CONCLUSION: In our study, consistent with the literature, a correlation was found between homozygous p.Gly390Arg mutation and the classic neonatal onset form. [ncbi.nlm.nih.gov]

We report a 31-year old woman with classic, neonatal-onset citrullinemia who developed progressive hypertrophic cardiomyopathy and cataracts, neither of which has been recognized [ncbi.nlm.nih.gov]

Congenital Bile Acid Synthesis Defect Type 2

Heritability: Autosomal recessive inheritance Clinical Modifiers: Neonatal onset AKA: BASD2, congenital bile acid synthesis defect type 2, AKR1D1 congenital bile acid synthesis [monarchinitiative.org]

Clinical Features Congenital bile acid synthesis defect type 2 (CBAS2) is a progressive liver disease of neonatal onset characterized by cholestasis (Lemonde et al. 2003; [preventiongenetics.com]

OMIM : 56 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

Enteric Anendocrinosis

Interestingly, the patients did not develop neonatal diabetes but childhood-onset diabetes. [go.gale.com]

The onset of neonatal diarrhea may rapidly lead to life threatening dehydration and malnutrition. [wjgnet.com]

Abstract Over the last decade, we have witnessed major advances in the understanding of the molecular basis of neonatal and infancy-onset diabetes. [karger.com]

18-Hydroxylase Deficiency

onset ; Renal salt wasting ; Vomiting Associated Genes CYP11B2 (Withdrawn symbols: ALDOS, CPN2, CYP11B, CYP11BL, P-450C18, P450aldo ) Mouse Orthologs Cyp11b1 (Withdrawn symbols [mousephenotype.org]

onset 0003623 Recurrent fever Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 Renal salt wasting Loss of salt in urine 0000127 Vomiting [rarediseases.info.nih.gov]

[…] symptoms Patients with Fever and Vomiting. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Failure to thrive Hepatomegaly Neonatal [mendelian.co]

Mitochondrial DNA Depletion Syndrome Type 3 Hepatocerebral

The typical phenotype associated with mutations in DGUOK is neonatal onset of progressive liver disease and feeding difficulties, usually associated with hypotonia, nystagmus [ijponline.biomedcentral.com]

(neonatal or infantile), multi-organ presentation, and mortality during infancy. [5] Hepatopathic form [ edit ] DGUOK, POLG, and MPV17 related forms result in defects to [mashpedia.com]

[…] resulting protein has some residual enzyme activity. [2] RRM2B mutations have been reported in 16 infants with severe encephalomyopathic MDS that is associated with early-onset [mashpedia.com]

Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency

neonatal/infancy Average age of death: normal Type of inheritance: mitochondrial inheritance External references: 1 OMIM reference - No MeSH references No signs/symptoms [csbg.cnb.csic.es]

[…] from neonatal life to early childhood Symptoms and signs depend on size of fatty acid involved Acyl CoA Dehydrogenases Deficiencies Medium chain fatty acid: Sudden infant [neurodiffdx.com]

Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological data: Class of prevalence: - Average age onset [csbg.cnb.csic.es]

3Beta-Hydroxy-Delta5-C27-Steroid Oxidoreductase Deficiency

OMIM : 57 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

Genes Tested: ABCD3, AKR1D1, AMACR, CYP7B1, HSD3B7 Description Congenital bile acid synthesis defect is an autosomal recessive condition associated with neonatal onset liver [cincinnatichildrens.org]

OMIM : 56 Congenital defects of bile acid synthesis are autosomal recessive disorders characterized by neonatal onset of progressive liver disease with cholestatic jaundice [malacards.org]

Sepsis in Premature Infants

Neonatal sepsis is classified as early-onset and late-onset. [scielo.br]

[…] to neonatal morbidity and mortality, and is an ongoing major global public health challenge. 1 According to the onset of age, neonatal sepsis is divided into early-onset [fn.bmj.com]

[…] contributes substantially to neonatal morbidity and mortality, and is an ongoing major global public health challenge. 1 According to the onset of age, neonatal sepsis is [fn.bmj.com]

Cryopyrin-Associated Periodic Syndrome

These data define the clinical and molecular phenotype of neonatal-onset multisystem inflammatory disease as induced by interleukin-1β excess. [doi.org]

Clinical and epidemiological research A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease Cailin H Sibley 1, Andrea Chioato 2, Sandra [doi.org]

Onset Multisystem Inflammatory Disease (NOMID) or Neonatal Onset Multisystem Inflammatory Disease (NOMID), children, systemic autoinflammatory disease, CIAS-1 gene, NALP- [clinicaltrials.gov]

Neonatal Infection

neonatal infection and Table 2 below to identify clinical indicators of early-onset neonatal infection. [web.archive.org]

During the studied period, 209 cases of EONI were diagnosed: unspecified EONI in 168 (80.4%) neonates, pneumonia in 20 (9.6%), and early-onset sepsis (EOS) in 21 (10%) neonates [jpnim.com]

In all, 4.3% of the newborns had an early-onset neonatal infection and 5.3% of the women had clinical chorioamnionitis. [ncbi.nlm.nih.gov]

Acute Hepatic Porphyria

No-charge genetic testing for acute hepatic porphyria Alnylam has partnered with Invitae to offer genetic testing at no charge for individuals who may carry a gene mutation known to be associated with acute hepatic porphyria (AHP). On average, it takes up to 15 years from symptom onset for a patient to receive[…] [invitae.com]

Umbilical Sepsis

SETTING Evaluation of umbilical cord IL-6 and funisitis as predictors of early-onset neonatal sepsis in PPROM. [semanticscholar.org]

[…] funisitis to predict early-onset neonatal sepsis. [journals.plos.org]

Neonatal sepsis in the neonatal intensive care unit: characteristics of early versus late onset. J Microbiol Immunol Infect. 2004;37:301-6. [ijpediatrics.com]

Neonatal Sepsis

Mishra UK, Jacobs SE, Doyle LW, Garland SM (2006) Newer approaches to the diagnosis of early onset neonatal sepsis. Arch Dis Child Fetal Neonatal Ed 91: F208-212. [omicsonline.org]

Sepses, Neonatal — Late-Onset Sepsis, Neonatal — Neonatal Late Onset Sepsis — Neonatal Late-Onset Sepses — Sepses, Neonatal Late-Onset — Sepsis, Neonatal Late-Onset — Neonatal [mesh.kib.ki.se]

Escherichia coli: a growing problem in early onset neonatal sepsis. Aust N Z J Obstet Gynaecol 2004;44(6):558-61. 4. [imj.ie]

Familial Cold Autoinflammatory Syndrome Type 1

Finally, neonatal onset multisystem inflammatory disease (NOMID; also called chronic infantile neurological, cutaneous, and articular syndrome, CINCA [Prieur et al. 1987]) [centrallakesclinic.biz]

“Neonatal onset multisystem inflammatory disease responsive to interleukin-1beta inhibition”. N Engl J Med. vol. 355. 2006. pp. 581-92. [dermatologyadvisor.com]

The lack of a confirmed genetic mutation does not preclude the diagnosis of CAPS because 40% of patients who have neonatal-onset multisystem autoinflammatory disease, 25% [merckmanuals.com]

CINCA Syndrome

Multisystem Inflammatory Disease; IOMID; NOMID; Multisystem inflammatory disease, neonatal-onset; Prieur Griscelli syndrome See More Categories: Neonatal onset multisystem [rarediseases.info.nih.gov]

Neonatal-Onset Multisystem Inflammatory Disease Responsive to Interleukin-1{beta} Inhibition N Engl J Med 2006 355: 581–592. [en.wikipedia.org]

Clinical Research Resources ClinicalTrials.gov lists trials that are related to Neonatal Onset Multisystem Inflammatory disease. [rarediseases.info.nih.gov]

Muckle-Wells Syndrome

Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, and articular syndrome is an autoinflammatory disease characterized by urticarial [ncbi.nlm.nih.gov]

Salford Royal NHS Foundation Trust, Manchester, UK. vishalmadan@doctors.org.uk Abstract We describe a patient with overlapping clinical features of Muckle-Wells syndrome and neonatal-onset [ncbi.nlm.nih.gov]

NOMID is the commonly used acronym for: Neonatal Onset Multisystem Inflammatory disease. [autoinflammatory.org]

Citrullinemia Type 2

Type II, Neonatal-Onset Neonatal intrahepatic cholestasis caused by citrin deficiency NICCD Neonatal-onset citrullinemia type II Cholestasis, Neonatal Intrahepatic, caused [bioportal.bioontology.org]

In this case, neonatal-onset CTLN2 is diagnosed. [symptoma.com]

[…] citrullinemia in early infancy. 6 56 Tomomasa T...Morikawa A 11343053 2001 4 Neonatal presentation of adult-onset type II citrullinemia. 56 6 Ohura T...Saheki T 11281457 [malacards.org]

Multiple Carboxylase Deficiency

Abstract Biotin-responsive multiple carboxylase deficiency can be categorized by clinical criteria into a neonatal-onset disorder and distinct syndrome of infantile onset. [ncbi.nlm.nih.gov]

(propionyl-CoA-carboxylase) ligase deficiency (disorder) Multiple carboxylase deficiency - neonatal onset (disorder) Multiple carboxylase deficiency - neonatal onset Biotin [wikidata.org]

[…] the neonatal-onset form. [ncbi.nlm.nih.gov]

Glutaric Aciduria Type 2

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. [uniprot.org]

The results were promising for the late-onset disease. Intravenous carnitine gave rewarding results in one patient with neonatal-onset disease. [nature.com]

Clinical description Patients with MADD fall into 3 broad clinical phenotypes: 1) neonatal onset with congenital anomalies, 2) neonatal onset without anomalies, (together [orpha.net]

Severe Neonatal-Onset Encephalopathy with Microcephaly

Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene. b' ' Systematic References: 1. [moldiag.com]

susceptibility to, X-linked 3 Angelman syndrome Severe neonatal-onset encephalopathy with microcephaly Mental retardation, X-linked, syndromic 13 Reversed 1 HGVS NC_000023.10 [snpedia.com]

ClinVar Risk rs28934906(T;T) Alt rs28934906(T;T) Reference Rs28934906(C;C) Significance Other Disease Rett syndrome Encephalopathy not provided Autism Angelman syndrome Severe neonatal-onset [snpedia.com]

Ornithine Transcarbamylase Deficiency

A retrospective analysis of 74 cases of neonatal-onset ornithine transcarbamylase (OTC) deficiency. [ncbi.nlm.nih.gov]

Some late onset patients that underwent LT, showed an activity that was as low as that observed in the neonatal onset cases. [ncbi.nlm.nih.gov]

The worst affected patients are hemizygous males, in whom a neonatal onset of hyperammonemia is manifested by poor feeding, vomiting, lethargy, tachypnea, and irritability [symptoma.com]

Carbamoyl Phosphate Synthetase Deficiency

[4] Severe hyperammonemia and severe clinical manifestations are common in neonatal-onset CPS1D. [1] Neonatal-onset patients are often born normally. [journals.lww.com]

neonatal onset UCDs, depending on their underlying defect [ 27 ]. [ojrd.biomedcentral.com]

Neonatal-onset CPSI deficiency is the most common form of the disease. [symptoma.com]

Argininosuccinic Aciduria

The clinical presentation is variable, and there are two main forms: Neonatal onset: Within the first days of life, babies with neonatal onset argininosuccinic aciduria experience [sema4genomics.com]

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, neonatal hypotonia; respiratory alkalosis; hyperammonemia; coma, and death [icd9data.com]

Propionic Acidemia

We report a child with neonatal-onset propionic acidemia treated with living-related liver transplantation. [ncbi.nlm.nih.gov]

Neonatal-onset propionic acidemia: Neurologic and developmental profiles and implications for management. [revistabiomedica.org]

Clinical description Propionic acidemia can present in one of the following forms: severe neonatal onset, intermittent late onset or a chronic progressive form. [orpha.net]

Most of the 28 patients with TMEM70 disorder reported to date display a distinctive phenotype characterised by neonatal onset of severe muscular hypotonia hypertrophic cardiomyopathy [jmg.bmj.com]

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. [cambridge.org]

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. Arch Dis Child 2010 ; 95 : 296 – 301. 17. [cambridge.org]

Neonatal Meningitis

OBJECTIVES: To study the epidemiology of early onset neonatal bacterial meningitis (EONBM) in Australasia. [ncbi.nlm.nih.gov]

Neonatal—onset up to 4 days of age First choice: ampicillin 25 mg/kg IV every 8 hours plus cefotaxime (Claforan) 50 mg/kg IV every 12 hours Alternative: ampicillin 25 mg/kg [calsprogram.org]

We report the case of a late-onset neonatal meningitis by Streptococcus agalactiae (group B Streptococcus - GBS) that was diagnosed with a latex agglutination assay (on cerebrospinal [ncbi.nlm.nih.gov]

Congenital Isolated ACTH Deficiency

RESULTS: We described the largest series of 91 IAD patients and identified three distinct groups: neonatal onset complete or partial IAD or late onset IAD. [ncbi.nlm.nih.gov]

We previously demonstrated that human and micemutations of the highly cortico/melanotroph specific transcription factor gene Tpitcause a neonatal onset form of congenital [documents.tips]

Onset may occur in the neonatal period, but often is first observed in later childhood. [endocrine-abstracts.org]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. [icd9data.com]

Two patients with neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome were studied at 4 and 2 1/2 yr of age, respectively. [ncbi.nlm.nih.gov]

Abstract Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is characterized by variable clinical presentation and age of onset [Neonatal onset (~12% of affected [giapjournals.com]

Neonatal Hypocalcemia

Abstract For the treatment of early-onset neonatal hypocalcemia, 50 neonates received either a high dose (group H), a low dose (group L), or no parenteral calcium (Ca) (group [ncbi.nlm.nih.gov]

CONCLUSIONS: Moderate-to-severe late-onset neonatal hypocalcemia is more common in Hispanic and male infants, is often a sign of coexistent vitamin D insufficiency or deficiency [ncbi.nlm.nih.gov]

Efficacy of prophylactic intravenous calcium administration in first 5 days of life in high risk neonates to prevent early onset neonatal hypocalcaemia: a randomised controlled [emedicalj.com]

Wolcott-Rallison Syndrome

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. [squ.pure.elsevier.com]

Abstract Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated [ncbi.nlm.nih.gov]

/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. [semanticscholar.org]